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Genetic and Rare Diseases Information Center (GARD)

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Peters anomaly

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Your Question

I have one child with Peters anomaly. What causes this condition? Is it inherited?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Peters anomaly?

Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome.[2]
Last updated: 9/22/2010

What causes Peters anomaly?

While the exact cause of Peters anomaly is not known, the critical event is believed to occur in the first trimester of pregnancy, during the formation of the anterior chamber (the front part of the eye). Genetic and environmental factors may play a role.[3] Some cases of Peters anomaly have been tied to mutation in the PAX6 gene, the PITX2 gene, the CYP1B1 gene, or the FOXC1 gene.[2]
Last updated: 2/15/2010

Is Peters anomaly inherited?

Most cases of Peters anomaly are sporadic or autosomal recessive, but autosomal dominant transmission has been reported.[2][3]
Last updated: 2/15/2010